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rs104893753

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
Make rs104893753(C;T)
Make rs104893753(T;T)
ReferenceGRCh38 38.1/141
Chromosome3
Position193643005
GeneOPA1
is asnp
is mentioned by
dbSNPrs104893753
ebirs104893753
HLIrs104893753
Exacrs104893753
Varsomers104893753
Maprs104893753
PheGenIrs104893753
hapmaprs104893753
1000 genomesrs104893753
hgdprs104893753
ensemblrs104893753
gopubmedrs104893753
geneviewrs104893753
scholarrs104893753
googlers104893753
pharmgkbrs104893753
gwascentralrs104893753
openSNPrs104893753
23andMers104893753
23andMe allrs104893753
SNP Nexus

SNPshotrs104893753
SNPdbers104893753
MSV3drs104893753
GWAS Ctlgrs104893753
Max Magnitude0
OMIM605290
Desc
Variant0006
Relatedalso
ClinVar
Risk rs104893753(T;T)
Alt rs104893753(T;T)
Reference rs104893753(C;C)
Significance Pathogenic
Disease Dominant hereditary optic atrophy not provided
Variation info
Gene OPA1
CLNDBN Dominant hereditary optic atrophy not provided
Reversed 0
HGVS NC_000003.11:g.193360794C>T
CLNSRC HGMD OMIM Allelic Variant
CLNACC RCV000005390.3, RCV000081746.3,